"Congenital iodine deficiency syndrome Congenital iodine deficiency syndrome, previously known as cretinism, is a condition of severely stunted physical and mental growth owing to untreated congenital deficiency of thyroid hormone (congenital hypothyroidism) usually owing to maternal hypothyroidism. Around the world, the most common cause of congenital hypothyroidism is iodine deficiency. It has affected many people worldwide and continues to be a major public health problem in many countries. Iodine is an essential trace element, necessary primarily for the synthesis of thyroid hormones. Iodine deficiency is the most common preventable cause of brain damage worldwide. Although iodine is found in many"
"consumption of iodine-rich foodstuffs (e.g. marine products) and the over-consumption of foodstuffs causing goitre, particularly bitter cassava, which is a staple in Central Africa. Anaemia is quite prevalent in Africa especially among young children due mainly to a diet that is low in animal-based foodstuffs and high in fibre-rich cereals, tannins and phytates which inhibit iron absorption. In 2006, about 67.6 per cent of children under 5, and overall 83.5 million children were anaemic. Through its effects on metabolic processes such as oxygen transport, oxidative metabolism and cell growth, iron deficiency also retards growth and development. It impairs the immune"
"Ornithine aminotransferase deficiency Ornithine aminotransferase deficiency (also known as gyrate atrophy of the choroid and retina) is an inborn error of ornithine metabolism, caused by decreased activity of the enzyme ornithine aminotransferase. Biochemically, it can be detected by elevated levels of ornithine in the blood. Clinically, it presents initially with poor night vision, which slowly progresses to total blindness. It is believed to be inherited in an autosomal recessive manner. Approximately 200 known cases have been reported in the literature. The incidence is highest in Finland, estimated at 1:50,000. Research suggests there can be some adverse effect on muscles and"
"iodate as dough conditioner in bread and baked goods was gradually replaced by the use of other conditioning agents such as bromide. Iodine deficiency resulting in goiter occurs in 187 million people globally (2.7% of the population). It resulted in 2700 deaths in 2013 up from 2100 deaths in 1990. A low amount of thyroxine (one of the two thyroid hormones) in the blood, due to lack of dietary iodine to make it, gives rise to high levels of thyroid stimulating hormone (TSH), which stimulates the thyroid gland to increase many biochemical processes; the cellular growth and proliferation can result"
"various presentations of one or more misplaced accessory thyroid glands. These can be asymptomatic. Iodine deficiency, most common in inland and mountainous areas, can predispose to goitre – if widespread, known as endemic goitre. Pregnant women deficient of iodine can give birth to infants with thyroid hormone deficiency. The use of iodised salt used to add iodine to the diet has eliminated endemic cretinism in most developed countries, and over 120 countries have made the iodination of salt mandatory. Because the thyroid concentrates iodine, it also concentrates the various radioactive isotopes of iodine produced by nuclear fission. In the event"
"the thyroid is permanently damaged. Cretinism is a condition associated with iodine deficiency and goiter, commonly characterised by mental deficiency, deafness, squint, disorders of stance and gait and stunted growth due to hypothyroidism. Paracelsus was the first to point out the relation between goitrous parents and their mentally disabled children. As a result of restricted diet, isolation, intermarriage, etc., as well as low iodine content in their food, children often had peculiar stunted bodies and retarded mental faculties, a condition later known to be associated with thyroid hormone deficiency. Diderot, in his 1754 ""Encyclopédie"", described these patients as ""crétins"". In"
"the disease known as simple goitre. The major form of thyroid hormone in the blood is thyroxine (T), which has a longer half-life than T. In humans, the ratio of T to T released into the blood is between 14:1 and 20:1. T is converted to the active T (three to four times more potent than T) within cells by deiodinases (5'-iodinase). These are further processed by decarboxylation and deiodination to produce iodothyronamine (Ta) and thyronamine (Ta'). All three isoforms of the deiodinases are selenium-containing enzymes; thus dietary selenium is essential for T production. Iodine accounts for 65% of the"
"Graves' disease Graves' disease, also known as toxic diffuse goiter, is an autoimmune disease that affects the thyroid. It frequently results in and is the most common cause of hyperthyroidism. It also often results in an enlarged thyroid. Signs and symptoms of hyperthyroidism may include irritability, muscle weakness, sleeping problems, a fast heartbeat, poor tolerance of heat, diarrhea, and unintentional weight loss. Other symptoms may include thickening of the skin on the shins, known as pretibial myxedema, and eye bulging, a condition caused by Graves' ophthalmopathy. About 25 to 80% of people with the condition develop eye problems. The exact"
"as a side effect of administration of iodine-containing contrast agents. In some cases, excessive iodine contributes to a risk of autoimmune thyroid diseases (Hashimoto's thyroiditis and Graves' disease). Iodine deficiency resulting in goiter occurs 187 million people globally (2.7% of the population). Certain areas of the world, due to natural deficiency and unavailability of iodine, are severely affected by iodine deficiency, which affects approximately two billion people worldwide. It is particularly common in the Western Pacific, South-East Asia and Africa. Among other nations affected by iodine deficiency, China and Kazakhstan have begun taking action, while Russia has not. Successful campaigns"
"thyroid disease while worldwide hypothyroidism and goiter due to dietary iodine deficiency is the most common. Hypothyroidism affects 3-10% percent of adults, with a higher incidence in women and the elderly. An estimated one-third of the world's population currently lives in areas of low dietary iodine levels. In regions of severe iodine deficiency, the prevalence of goiter is as high as 80%. In areas where iodine-deficiency is not found, the most common type of hypothyroidism is an autoimmune subtype called Hashimoto's thyroiditis, with a prevalence of 1-2%. As for hyperthyroidism, Graves' disease, another autoimmune condition, is the most common type"
"Gaspard Adolphe Chatin Gaspard Adolphe Chatin (30 November 1813 – 13 January 1901) was a French physician, mycologist and botanist who was born in Isère, and died in Les Essarts-le-Roi. He was the first to prove that goiter was related of iodine deficiencies. He studied at the Faculté de Médecine in Paris and received his doctorate in May 1840. In 1841, he became Chief Pharmacist of the Beaujon Hospital in Paris. and in 1859, at the Hôtel-Dieu de Paris. He taught botany at the Ecole Superieure de Pharmacie, which he directed from 1874. In April 1886, there were student riots"
"hormone from the brain's hypothalamus (tertiary hypothyroidism). Primary hypothyroidism is about a thousandfold more common than central hypothyroidism. Iodine deficiency is the most common cause of primary hypothyroidism and endemic goiter worldwide. In areas of the world with sufficient dietary iodine, hypothyroidism is most commonly caused by the autoimmune disease Hashimoto's thyroiditis (chronic autoimmune thyroiditis). Hashimoto's may be associated with a goiter. It is characterized by infiltration of the thyroid gland with T lymphocytes and autoantibodies against specific thyroid antigens such as thyroid peroxidase, thyroglobulin and the TSH receptor. After women give birth, about 5% develop postpartum thyroiditis which can"
"in the characteristic swelling or hyperplasia of the thyroid gland, or goiter. In mild iodine deficiency, levels of triiodiothyronine (T) may be elevated in the presence of low levels of levothyroxine, as the body converts more of the levothyroxine to triiodothyronine as a compensation. Some such patients may have a goiter, without an elevated TSH. The introduction of iodized salt since the early 1900s has eliminated this condition in many affluent countries; however, in Australia, New Zealand, and several European countries, iodine deficiency is a significant public health problem. It is more common in developing countries. Public health initiatives to"
"those areas without outside food sources are most at risk of iodine deficiency diseases. Iodine deficiency results in the impairments in varying degrees of physical and mental development. It also causes gradual enlargement of the thyroid gland, referred to as a goiter. It is being combated in many countries by public health campaigns of iodine administration. Congenital hypothyroidism can be endemic, genetic, or sporadic. If untreated, it results in mild to severe impairment of both physical and mental growth and development. Poor length growth is apparent as early as the first year of life. Adult stature without treatment ranges from"
"and jaundice. A goiter is rare, although it may develop later in children who have a thyroid gland that does not produce functioning thyroid hormone. A goiter may also develop in children growing up in areas with iodine deficiency. Normal growth and development may be delayed, and not treating infants may lead to an intellectual impairment (IQ 6–15 points lower in severe cases). Other problems include the following: large scale and fine motor skills and coordination, reduced muscle tone, squinting, decreased attention span, and delayed speaking. Tooth eruption may be delayed. In older children and adolescents, the symptoms of hypothyroidism"
"with a large goitre. The many possible complications include hemorrhage, loss of airway, subcutaneous emphysema, wound infections, stomal cellulites, fracture of tracheal rings, poor placement of the tracheostomy tube, and bronchospasm. Early complications include infection, hemorrhage, pneumomediastinum, pneumothorax, tracheoesophageal fistula, recurrent laryngeal nerve injury, and tube displacement. Delayed complications include tracheal-innominate artery fistula, tracheal stenosis, delayed tracheoesophageal fistula, and tracheocutaneous fistula. A 2013 systematic review (published cases from 1985 to April 2013) studied the complications and risk factors of percutaneous dilatational tracheostomy (PDT), identifying major causes of fatality to be hemorrhage (38.0%), airway complications (29.6%), tracheal perforation (15.5%), and pneumothorax"
"like goitre, brain damage and cretinism and is a problem in at least 130 different countries. Even though these deficiencies are invisible, they have great potential to impact human health on a global scale. It must also be noted that small increases in levels can cause a fertilization effect where the growth and reproduction abilities of C plants such as soybeans and rice are actually enhanced by 10-20% in laboratory experiments. This does not take into account, however, the additional burden of pests, pathogens, nutrients and water affecting the crop yield. While researchers acknowledge there are possible benefits of global"
"(lymphocytic infiltration) and destruction (fibrosis) of the gland. Goiter is the general enlargement of the thyroid that can be associated with many thyroid diseases. The main reason this happens is because of increased signaling to the thyroid by way of TSH receptors to try to make it produce more thyroid hormone. This causes increased vascularity and increase in size (hypertrophy) of the gland. In hypothyroid states or iodine deficiency, the body recognizes that it is not producing enough thyroid hormone and starts to produce more TSH to help stimulate the thyroid to produce more thyroid hormone. This stimulation causes the"
"Ornithine transcarbamylase deficiency Ornithine transcarbamylase deficiency (or OTC deficiency) is the most common urea cycle disorder in humans. It is an inherited disorder which causes toxic levels of ammonia to build up in the blood. Ornithine transcarbamylase, the defective enzyme in this disorder, is the final enzyme in the proximal portion of the urea cycle. It is responsible for converting carbamoyl phosphate and ornithine into citrulline. OTC deficiency is inherited in an X-linked recessive manner, meaning males are more commonly affected than females. In severely affected individuals, ammonia concentrations increase rapidly, causing ataxia, lethargy, and death without rapid intervention. OTC"
"retina and choroid, sometimes accompanying the metabolic condition hyperornithinemia. The presence of gyrate atrophy with iminoglycinuria stems from a deficiency of proline in chorioretinal tissues, while processes behind hyperornithinemia disrupt the metabolic pathway from ornithine to proline, which alters the catabolism of ornithine, and also results in reduced levels of proline. Thus, gyrate atrophy can be found with either disorder, with proline deficiency as an underlying feature. Hyperglycinuria is another disorder affecting reabsorption of glycine and imino acids, similar to iminoglycinuria and considered to be a heterozygous form. When accompanied by a specific type of kidney stone (nephrolithiasis), it is"
"oil) to goiter patients, a treatment later advocated by the WHO. Through the thyroid clinic, Campos likewise pursued research on whether there was a genetic factor that contributed to endemic goiter. His findings, as contained in a paper that he published in 1961, proposed that the iodine intake deficiency thought to be the main cause of goiter was just one of the triggering factors of the disease, and that physiology and anatomy proved to be more important considerations as some people were born without the enzyme necessary to take in trace elements such as iodine even if it were present"
"are truly 'diagnostic' of Graves' disease (""i.e.,"" not seen in other hyperthyroid conditions): exophthalmos and nonpitting edema (pretibial myxedema). Goiter is an enlarged thyroid gland and is of the diffuse type (""i.e.,"" spread throughout the gland). Diffuse goiter may be seen with other causes of hyperthyroidism, although Graves' disease is the most common cause of diffuse goiter. A large goiter will be visible to the naked eye, but a small one (mild enlargement of the gland) may be detectable only by physical examination. Occasionally, goiter is not clinically detectable, but may be seen only with computed tomography or ultrasound examination"
"Glutaric aciduria type 1 Glutaric acidemia type 1 (or ""glutaric aciduria"", ""GA1"", or ""GAT1"") is an inherited disorder in which the body is unable to completely break down the amino acids lysine, hydroxylysine and tryptophan. Excessive levels of their intermediate breakdown products (glutaric acid, glutaryl-CoA, 3-hydroxyglutaric acid, glutaconic acid) can accumulate and cause damage to the brain (and also other organs), but particularly the basal ganglia, which are regions that help regulate movement. GA1 causes secondary carnitine deficiency, as glutaric acid, like other organic acids, is detoxified by carnitine. Mental retardation may also occur. The severity of glutaric acidemia type"
"tubers, which are among Africa’s staples. Inadequacies in iodine intake on the other hand impair the synthesis of thyroid hormones, which are critical for normal development and proper functioning of the brain and nervous system as well as the conservation of body heat and energy. Iodine deficiency causes endemic goitre and cretinism as well as stunting of mental and physical development. Globally, 1.6 million people are at risk of iodine deficiency disorders and 50 million children affected by them. About 100,000 children are born each year with mental retardation, most of them in Africa. This is due to the low"
"Gunther disease Gunther disease, also known as congenital erythropoietic porphyria (CEP), uroporphyrinogen III synthase deficiency and UROS deficiency, is a congenital form of erythropoietic porphyria. The word porphyria originated from the Greek word porphura. Porphura actually means ""purple pigment"", which, in suggestion, the color that the body fluid changes when a person has Gunther's disease. It is a rare, autosomal recessive metabolic disorder affecting heme, caused by deficiency of the enzyme uroporphyrinogen cosynthetase. It is extremely rare, with a prevalence estimated at 1 in 1,000,000 or less. There have been times that prior to birth of a fetus, Gunther's disease"
"Methylenetetrahydrofolate reductase deficiency Methylenetetrahydrofolate reductase (MTHFR) deficiency is the most common genetic cause of elevated serum levels of homocysteine (hyperhomocysteinemia). It is caused by genetic defects in MTHFR, which is an important enzyme in the methyl cycle. Common variants of MTHFR deficiency are asymptomatic and have only minor effects on disease risk. Severe variants (from nonsense mutations) are vanishingly rare. The common MTHFR deficiencies are usually asymptomatic, although the 677T variant can cause a mildly increased risk of some diseases. For individuals homozygous in the 677T variant, there is a mildly elevated risk of thromboembolism (odds ratio 1.2), and stroke"
"Basil Hetzel Basil Stuart Hetzel (13 June 1922 – 4 February 2017) was an Australian medical researcher who made a major contribution to combating iodine deficiency, a major cause of goitre and cretinism worldwide. Hetzel was born in London to Elinor Hetzel (née Watt) and Kenneth Stuart Hetzel, an anaesthetist. Hetzel's parents were originally from South Australia but in London at the time while Kenneth worked at the University College Hospital. They returned to Adelaide in 1925. There he, along with his brother Peter (born 1924), was schooled at King's College and St Peter's College, Adelaide. Hetzel studied medicine at"
"or about one out of every thousand people with hypothyroidism. In 1811, Bernard Courtois discovered iodine was present in seaweed, and iodine intake was linked with goiter size in 1820 by Jean-Francois Coindet. Gaspard Adolphe Chatin proposed in 1852 that endemic goiter was the result of not enough iodine intake, and Eugen Baumann demonstrated iodine in thyroid tissue in 1896. The first cases of myxedema were recognized in the mid-19th century (the 1870s), but its connection to the thyroid was not discovered until the 1880s when myxedema was observed in people following the removal of the thyroid gland (thyroidectomy). The"
"reported. A goiter is an abnormal thyroid gland proliferation that manifests as multi-nodular, uni-nodular, or non-nodular diffuse glandular enlargement. A goiter is formed of solid matrix, colloid cysts, blood products, calcification, and fibrosis, and this heterogeneity may lead to variable appearances on a CT scan (Figs. 13, ,1414 and and15)15). US is more sensitive in evaluating thyroid nodules within a goiter; however, a symptomatic goiter may require surgical treatment with total thyroidectomy, and in this case CT plays an additional role in preoperative evaluation. Specific aspects for examination on a CT scan during the preoperative evaluation for goiter include extension,"
"Goitrin Goitrin is a sulfur-containing oxazolidine, a cyclic thiocarbamate, that reduces the production of thyroid hormones such as thyroxine. It is found in cruciferous vegetables such as cabbage, brussels sprouts and rapeseed oil, and is formed by the hydrolysis of a glucosinolate: progoitrin or 2-hydroxy-3-butenyl glucosinolate. The unstable isothiocyanate (2-hydroxy-3-butenyl isothiocyanate) derived from the latter glucosinolate spontaneously cyclizes to goitrin, because the hydroxy group is situated in proximity to the isothiocyanate group (allowing a five-membered ring to be formed). Hence, the oxygen in the molecule stems from the hydroxy group of the original unstable isothiocyanate. Plants containing this specific glucosinolate"
"or the wrong shape, and which cannot bring ornithine to the mitochondrial matrix. This failure of ornithine transport causes an interruption of the urea cycle and the accumulation of ammonia, resulting in the signs and symptoms of ornithine translocase deficiency. This disorder is inherited in an autosomal recessive pattern, which means the defective gene is located on an autosome, and two copies of the gene - one from each parent - are required to be born with the disorder. The parents of an individual with an autosomal recessive disorder each carry one copy of the altered gene but do not"
"specific entity in each patient/case is not always clear retrospectively, especially in older literature. This is logical given that advanced medical imaging that can show what is happening at various places within a thyroid gland inside a living person (such as nuclear medicine imaging of radioiodine tracer uptake) was not available until after the 1940s. Toxic multinodular goitre Toxic multinodular goiter (also known as toxic nodular goiter, or Plummer's disease) is an active multinodular goiter associated with hyperthyroidism. It is a common cause of hyperthyroidism in which there is excess production of thyroid hormones from functionally autonomous thyroid nodules, which"
"clinical marker of either the direct or indirect insufficient intake of iodine in the human body. There is evidence of goiter, and its medical treatment with iodine-rich algae and burnt sponges, in Chinese, Egyptian, and Roman ancient medical texts. In 1848, King Carlo Alberto of Sardinia commissioned the first epidemiological study of congenital iodine deficiency syndrome, in northern Savoy where it was frequent. In past centuries, the well reported social diseases prevalent among the poorer social classes and farmers, caused by dietary and agricultural monocultures, were: pellagra, rickets, beriberi, scurvy in long-term sailors, and the endemic goiter caused by iodine"